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ETHYLIN JABS, M.D.
M.D.
NPI: 1467408336IndividualAccepts Medicare
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
74558(MN)
CMS Specialties
PrimaryMEDICAL GENETICS AND GENOMICS
Education
JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE
Class of 1977
Research & Publications (20)
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
PMID 19574259·J Med Genet·2010
5-case
Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
PMID 19142206·Eur J Hum Genet·2009
8-other
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.
PMID 19444471·Hum Genet·2009
8-other
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
PMID 19338053·Hum Mutat·2009
6-review
Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family.
PMID 19565261·Dev Genes Evol·2009
7-preclinical
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.
PMID 19593369·PLoS Genet·2009
8-other
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
PMID 18411254·Hum Mol Genet·2008
8-other
The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.
PMID 18407821·Bone·2008
7-preclinical
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
PMID 18688869·Am J Med Genet A·2008
8-other
Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.
PMID 18357615·Genet Epidemiol·2008
8-other
Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors.
PMID 17929053·Dev Genes Evol·2007
7-preclinical
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
PMID 17438386·Genet Med·2007
8-other
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
PMID 17236141·Am J Hum Genet·2007
8-other
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
PMID 16953426·Hum Genet·2006
4-observational
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
PMID 16415175·J Med Genet·2006
8-other
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
PMID 16418219·J Cell Sci·2006
4-observational
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.
PMID 16526918·Cleft Palate Craniofac J·2006
4-observational
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.
PMID 16766665·Proc Natl Acad Sci U S A·2006
8-other
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
PMID 16885744·Laryngoscope·2006
5-case
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
PMID 16404586·Hum Genet·2006
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 200 1ST ST SW
ROCHESTER, MN 55905 - Phone
- (507) 284-2511
Quick Facts
- NPI
- 1467408336
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 1
- Locations
- 1
- Years in Practice
- 49
- Publications
- 20
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